Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003564:Cytidine Deaminase / Q000172:deficiency* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007075:Immunoglobulin M / Q000235:genetics / Q000276:immunology*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D007223:Infant; D007231:Infant, Newborn; D007239:Infections / Q000235:genetics / Q000276:immunology; D008297:Male; D008875:Middle Aged; D027041:Somatic Hypermutation, Immunoglobulin; D000098830:AICDA (Activation-Induced Cytidine Deaminase)
D007075:Immunoglobulin M; D000098830:AICDA (Activation-Induced Cytidine Deaminase); D003564:Cytidine Deaminase